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pro vyhledávání: '"Fang-Na Wang"'
Autor:
Zhao-Jing Lin, Jie-Yi Long, Juan Li, Fang-Na Wang, Wei Chu, Lei Zhu, Ya-Li Li, Liang-Liang Fan
Publikováno v:
Frontiers in Medicine, Vol 11 (2024)
BackgroundCongenital cataracts stand as the primary cause of childhood blindness globally, characterized by clouding of the eye’s lens at birth or shortly thereafter. Previous investigations have unveiled that a variant in the V-MAF avian musculoap
Externí odkaz:
https://doaj.org/article/d6605ad43acb49169b49942d0e7a6508
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-8 (2019)
Abstract Background Proximal symphalangism is a rare disease with multiple phenotypes including reduced proximal interphalangeal joint space, symphalangism of the 4th and/or 5th finger, as well as hearing loss. At present, at least two types of proxi
Externí odkaz:
https://doaj.org/article/ee27168ab2d14a5a81ff2632a7ad61f0
Autor:
Pingping Zhang, Limin Rong, Yali Li, Jian Gao, Haishen Tian, Xiaoping Yu, Yanmei Sun, Fang-Na Wang
Publikováno v:
Journal of Genetics. 99
Smith-Magenis syndrome (SMS, OMIM: 182290) is a multiple congenital anomalies and intellectual disability syndrome due to a 3.45 Mb microdeletion involving 17p11.2 and is estimated to occur about one in 25,000 births. Up to now, the ultrasound findin
Publikováno v:
BMC Medical Genetics
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-8 (2019)
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-8 (2019)
BackgroundProximal symphalangism is a rare disease with multiple phenotypes including reduced proximal interphalangeal joint space, symphalangism of the 4th and/or 5th finger, as well as hearing loss. At present, at least two types of proximal sympha